Canonical Allele Identifier: PA2580337052
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 2093864
ClinVar RCV Id: RCV003021045
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006196.1:p.His75Arg
CA384025503
NM_006205.3:c.224A>G